Canonical Allele Identifier: CA174719
Gene: LMAN1L HGNC NCBI

Linked Data

ClinVar Variation Id: 161751
ClinVar RCV Id: RCV000149287
dbSNP Id: rs193921107
COSMIC: COSM5521447
MyVariant Identifiers: chr15:g.75116706G>T (hg19) chr15:g.74824365G>T (hg38)
PubMed: PMID:23265383
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74824365G>T , CM000677.2:g.74824365G>T GRCh38
NC_000015.9:g.75116706G>T , CM000677.1:g.75116706G>T GRCh37
NC_000015.8:g.72903759G>T NCBI36
NG_052659.1:g.16513G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000309664.10:c.1338G>T MANE Select ENSP00000310431.5:p.Lys446Asn
ENST00000309664.9:c.1338G>T ENSP00000310431.5:p.Lys446Asn
ENST00000379709.7:c.1302G>T ENSP00000369031.3:p.Lys434Asn
ENST00000565585.5:n.2400G>T
ENST00000566046.1:n.178G>T
ENST00000567848.1:c.243-1111G>T ENSP00000454716.1:n.243-1111G>T
NM_021819.2:c.1338G>T NP_068591.2:p.Lys446Asn
NM_021819.3:c.1338G>T MANE Select NP_068591.2:p.Lys446Asn
Search 100 bp 5'
Search 100 bp 3'